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Episodic Falling Syndrome (Cavalier Type)

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Test Overview:

Episodic falling syndrome (EFS) is an inherited condition affecting dogs. Episodes usually begin between 14 weeks and 4 years of age and are often associated with exercise, excitement or frustration. However, these episodes can occur at any time or under any circumstance. EFS is a disorder of the muscles that causes increased muscle tone and muscle spasticity (especially those of the limbs) resulting in limbs that appear “locked” in an extended position. This muscle spasticity results in a characteristic “praying” position and/or collapse. Episodes are usually a few seconds to several minutes in length and resolve on their own. Affected dogs appear neurologically normal between episodes. The severity and number of episodes vary over the course of the dog’s life and do not follow a specific progression pattern.

Category:

Nervous system / Neurologic - Associated with the brain, spinal cord and nerves

Gene:

Brevican (BCAN) Chromosome 7

Variant Detected:

Nucleotide Deletion and Nucleotide Insertion 15.7 kb deletion ins(GGCCTT)

Severity:

Low-Moderate. This disease can cause some discomfort and/or dysfunction in the affected animal. It does not generally affect life expectancy.

Mode of Inheritance:

Autosomal Recessive

Research Citation(s):

Gill JL, et al. A canine BCAN microdeletion associated with episodic falling syndrome. (2012) Neurobiol Dis 45;130-136.

Associated Breed(s):

Bernardoodle, Cavador, Cavalier King Charles Spaniel, Cavoodle, King Charles Spaniel, Mixed Breed,

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